Your browser doesn't support javascript.
loading
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
Gonçalves, Sara; Patat, Julie; Guida, Maria Clara; Lachaussée, Noelle; Arrondel, Christelle; Helmstädter, Martin; Boyer, Olivia; Gribouval, Olivier; Gubler, Marie-Claire; Mollet, Geraldine; Rio, Marlène; Charbit, Marina; Bole-Feysot, Christine; Nitschke, Patrick; Huber, Tobias B; Wheeler, Patricia G; Haynes, Devon; Juusola, Jane; Billette de Villemeur, Thierry; Nava, Caroline; Afenjar, Alexandra; Keren, Boris; Bodmer, Rolf; Antignac, Corinne; Simons, Matias.
Affiliation
  • Gonçalves S; Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France.
  • Patat J; Laboratory of Epithelial Biology and Disease, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France.
  • Guida MC; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
  • Lachaussée N; Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France.
  • Arrondel C; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
  • Helmstädter M; Development, Aging and Regeneration Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, CA, United States of America.
  • Boyer O; Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France.
  • Gribouval O; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
  • Gubler MC; Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France.
  • Mollet G; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
  • Rio M; Department of Medicine IV, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Charbit M; Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France.
  • Bole-Feysot C; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
  • Nitschke P; Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Huber TB; Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France.
  • Wheeler PG; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
  • Haynes D; Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France.
  • Juusola J; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
  • Billette de Villemeur T; Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France.
  • Nava C; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
  • Afenjar A; Department of Genetics, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
  • Keren B; Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Bodmer R; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
  • Antignac C; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
  • Simons M; Department of Medicine IV, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
PLoS Genet ; 14(5): e1007386, 2018 05.
Article in En | MEDLINE | ID: mdl-29768408
Subject(s)
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Calmodulin-Binding Proteins / Drosophila / P300-CBP Transcription Factors / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Animals / Female / Humans / Male Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2018 Type: Article Affiliation country: France
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Calmodulin-Binding Proteins / Drosophila / P300-CBP Transcription Factors / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Animals / Female / Humans / Male Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2018 Type: Article Affiliation country: France